• Media type: E-Article
  • Title: Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
  • Contributor: Manzini, M. Chiara; Tambunan, Dimira E.; Hill, R. Sean; Yu, Tim W.; Maynard, Thomas M.; Heinzen, Erin L.; Shianna, Kevin V.; Stevens, Christine R.; Partlow, Jennifer N.; Barry, Brenda J.; Rodriguez, Jacqueline; Gupta, Vandana A.; Al-Qudah, Abdel-Karim; Eyaid, Wafaa M.; Friedman, Jan M.; Salih, Mustafa A.; Clark, Robin; Moroni, Isabella; Mora, Marina; Beggs, Alan H.; Gabriel, Stacey B.; Walsh, Christopher A.
  • imprint: Elsevier BV, 2012
  • Published in: The American Journal of Human Genetics
  • Language: English
  • DOI: 10.1016/j.ajhg.2012.07.009
  • ISSN: 0002-9297
  • Origination:
  • Footnote:
  • Access State: Open Access